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Images in Dermatology
October 5, 2022

Peutz-Jeghers Syndrome

Author Affiliations
  • 1Division of Infectious Diseases, Department of Medicine, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan
JAMA Dermatol. 2022;158(11):1316. doi:10.1001/jamadermatol.2022.3979

A teenage girl was noted to have multiple dark-brown 1- to 2-mm hyperpigmented macules on the lips, nose (Figure), and conjunctivae that first appeared during infancy. At age 5 years she experienced intussusception that required an emergency laparotomy, which revealed gastrointestinal polyps. Histopathologic examination revealed the polyps to be hamartomatous, containing a tree-like proliferation of smooth muscle. There was no family history of hereditary hamartomatous polyposis syndromes. Given this constellation of features, a diagnosis of Peutz-Jeghers syndrome (PJS) was made. Genetic testing was not pursued given limited availability. She has required periodic colonoscopies to remove new polyps, and at last follow-up, pigmented cutaneous macules remained.

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